نتایج جستجو برای: genotype frequencies
تعداد نتایج: 180285 فیلتر نتایج به سال:
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in the Rare Kidney Stone Consortium PH registry and calculated prevalence using publicly available whole-exome data. PH1 (68.4% of...
The cathepsin D gene (CTSD) exon 2 (C224T) polymorphism has been associated with an increased risk for sporadic Alzheimer's disease (AD), but with controversial findings. We studied CTSD exon 2 (C224T) and apolipoprotein E (APOE) genotype frequencies in 168 AD patients and 218 age-matched healthy controls from Southern Italy. No statistically significant differences were found in CTSD allele or...
Background: Uncoupling protein-2 (UCP2), one of the mitochondrial transporter memborane protiens, is suggested as a contributor gene for obesity. A common G/A polymorphism in the UCP2 promoter region is associated with obesity and diabetes.Methods: As a cross-sectional study, 75 healthy 25-64 years volunteers were randomly selected from Tehran University of Medical Sciences population Lab. DNA ...
Apolipoprotein E (APOE) is a glycosylated protein with multiple biological properties. APOE gene polymorphism plays a central role in lipid metabolism and has recently been suggested to regulate inflammation. Our objective is to evaluate whether APOE polymorphism affects susceptibility to SLE. APOE genotyping was performed using ApoE StripAssay™ kit. Results indicated significantly higher frequ...
Background:It has been hypothesized that genetic factors other than histocompatibility disparity may play a role in predisposition to developing Chronic Myelogenous Leukemia (CML). In this regard, Th1 and Th2 cytokines and their gene polymorphism seems to be important. Overall expression and secretion of cytokines is dependent, at least in part, on genetic polymorphism (nucleotide variations) w...
late-onset alzheimer's disease (ad), a genetically heterogeneous neurodegenerative disorder, is the most common form of dementia in people over 65 years old. the role of vitamin d in neuropsychiatric and neurodegenerative disorders such as ad has been supported by epidemiologic investigations and animal models, as well. we examined the association of the vitamin d receptor (vdr) gene polymorphi...
We performed a case-control study to investigate whether SNPs of CHIP might affect the development of IA in Chinese Han nationality. We believe we are the first to have screened IA patients for mutations in the CHIP gene to determine the association with these variants. The study group comprised 224 Chinese Han nationality patients with at least one intracranial aneurysm and 238 unrelated healt...
OPN gene is located in the middle of chromosome 6 and it is reported that this gene is essential for the growth of mammary glands and lactation . UTMP gene is located on chromosome 21 and it plays a role in embryo survival rates and fertility rates . Studies have also shown that these two genes have a significant association with milk production traits and health traits. The aim of this study...
Background: Interleukin (IL)-23 has an important role in tumor immune regulation. Objective: To investigate the possible association of interleukin-23 receptor (IL23R) gene variants rs1884444, rs10889677 and rs11209026 with development of acute lymphoblastic leukemia (ALL). Methods: The IL23R variants were studied in 164 ALL patients and compared to 175 healthy controls by polymerase chain reac...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید